Additionally, Marfan syndrome type 2 (MFS2), which arises from mutations in TGFBR1 or TGFBR2, presents with features resembling the classical Marfan syndrome (MFS) caused by FBN1 mutations, such as aortic dilation and skeletal abnormalities, although it lacks some of the broader systemic features typical of MFS (Mizuguchi et al., 2004). The gene discussed is FBN1; the disease is Marfan syndrome.